Caracterización clínica de pacientes chilenos con displasia fibrosa/síndrome de McCune-Albright

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dc.catalogadordfo
dc.contributor.authorJimenez Sandoval, Catalina de Los Ángeles
dc.contributor.authorSchneider, Paulina
dc.contributor.authorBaudrand Biggs, René Felipe
dc.contributor.authorGarcía, Hernán
dc.contributor.authorMartinez, Alejandro
dc.contributor.authorMendoza, Carolina
dc.contributor.authorGrob Lunecke, Francisca Andrea
dc.contributor.authorSeiltgens Sorrel, Cristián
dc.contributor.authorFlorenzano Valdés, Pablo Felipe
dc.date.accessioned2025-03-18T13:41:15Z
dc.date.available2025-03-18T13:41:15Z
dc.date.issued2022
dc.description.abstractBackground: Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS) is characterized by a spectrum of manifestations that may include fibrous dysplasia of bone and multiple endocrinopathies. Aim: To describe the clinical spectrum, the study and follow-up of patients with FD/MAS cared at our institution. Material and Methods: Review of medical records of 12 pediatric and adult patients (11 women) who met the clinical and genetic diagnostic criteria for FD/ MAS. Results: The patients’ mean age at diagnosis was 4.9 ± 5.5 years. The most common initial clinical manifestation was peripheral precocious puberty (PPP) in 67% of patients and 75% had café-au-lait spots. Fibrous dysplasia was present in 75% of patients and the mean age at diagnosis was 7.9 ± 4.7 years. Ten patients had a bone scintigraphy, with an age at the first examination that varied between 2 and 38 years of age. The most frequent location of dysplasia was craniofacial and appendicular. No patient had a recorded history of cholestasis, hepatitis, or pancreatitis. In four patients, a genetic study was performed that was positive for the pathogenic variant of guanine nucleotide binding protein, alpha stimulating (GNAS). Conclusions: These patients demonstrate the variable nature of the clinical presentation and study of FD/MAS. It is essential to increase the index of diagnostic suspicion and adherence to international recommendations.
dc.fechaingreso.objetodigital2025-03-18
dc.format.extent8 páginas
dc.fuente.origenScopus
dc.identifier.doi10.4067/S0034-98872022001001275
dc.identifier.issn0034-9887
dc.identifier.scopusidSCOPUS_ID:85159658520
dc.identifier.urihttp://dx.doi.org/10.4067/S0034-98872022001001275
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/102720
dc.information.autorucEscuela de Medicina; Jimenez Sandoval Catalina De Los Angeles; S/I; 1071830
dc.information.autorucEscuela de Medicina; Baudrand Biggs Rene Felipe; 0000-0002-8655-4957; 1024
dc.information.autorucEscuela de Medicina; Grob Lunecke Francisca Andrea; 0000-0001-7685-9311; 209562
dc.information.autorucEscuela de Medicina; Seiltgens Sorrel Cristian; S/I; 209489
dc.information.autorucEscuela de Medicina; Florenzano Valdes Pablo Felipe; S/I; 167300
dc.language.isoes
dc.nota.accesoContenido completo
dc.pagina.final1282
dc.pagina.inicio1275
dc.revistaRevista Médica de Chile
dc.rightsacceso abierto
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/deed.es
dc.subjectFibrous Dysplasia
dc.subjectGTP-Binding Protein alpha Subunits
dc.subjectPolyostotic
dc.subjectPrecocious
dc.subjectPuberty
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.subject.ods03 Good health and well-being
dc.subject.odspa03 Salud y bienestar
dc.titleCaracterización clínica de pacientes chilenos con displasia fibrosa/síndrome de McCune-Albright
dc.typeartículo
dc.volumen150
sipa.codpersvinculados1071830
sipa.codpersvinculados1024
sipa.codpersvinculados209562
sipa.codpersvinculados209489
sipa.codpersvinculados167300
sipa.trazabilidadSCOPUS;2023-08-23
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